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early-onset Lafora body disease

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
Uniprot Description A progressive myoclonus epilepsy characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients.
Mondo Term and Equivalent IDs
MONDO:0014717:  early-onset Lafora body disease
DOID:0111445: 
Orphanet:324290: 
SCTID:733082001: 
UMLS:C4225258: 
UMLS:C4518574: